18-22171999-G-T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_005257.6(GATA6):c.855G>T(p.Ala285Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000925 in 1,231,450 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_005257.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GATA6 | ENST00000269216.10 | c.855G>T | p.Ala285Ala | synonymous_variant | Exon 2 of 7 | 1 | NM_005257.6 | ENSP00000269216.3 | ||
GATA6 | ENST00000581694.1 | c.855G>T | p.Ala285Ala | synonymous_variant | Exon 1 of 6 | 1 | ENSP00000462313.1 |
Frequencies
GnomAD3 genomes AF: 0.000595 AC: 90AN: 151254Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.000971 AC: 1049AN: 1080090Hom.: 0 Cov.: 30 AF XY: 0.00100 AC XY: 511AN XY: 510790
GnomAD4 genome AF: 0.000595 AC: 90AN: 151360Hom.: 0 Cov.: 32 AF XY: 0.000500 AC XY: 37AN XY: 73944
ClinVar
Submissions by phenotype
not provided Benign:5
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GATA6: BP4, BP7 -
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GATA6-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Atrioventricular septal defect 5 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at